Annalise Update and Gingerbread Houses

Yesterday began early as we loaded everyone up in the van at 5:45 am and headed off to St. Joe's Hospital to see Dr. Narayanan. Annalise had her first official appointment at 8 AM and Dr. Narayanan wanted us to be there an hour early to sign paperwork and have blood drawn from everybody so that we can participate in a research study he and Dr. Aleck are doing. It was definitely not a fun time, but the kids were all troopers and did very well overall.

John and the boys sporting their colorful bandages. I got to have a pink one.


While at the appointment, Dr. Narayanan confirmed what we have been fearing for almost 2 months now. Annalise has now been diagnosed with the same thing Bryce has. It's strange to be diagnosed like that, but since they don't really know what Bryce has, there really isn't any other way to do it. So on paper, it is Unspecified Leukodystrophy, but really we still have no idea. What has become more certain is that it is some type of autosomal recessive genetic disorder, meaning that very likely both John and I carry a single copy of the same mutated gene and have thus passed 2 mutated genes down to Bryce and Annalise which is why they are being affected this way. It is also likely that the other boys are carriers of this mutated gene like John and I must be.

Like I said before, Bryce, Annalise and our family have been accepted into a research study that Dr. Narayanan and some of his partners are going to be conducting which involves full genome sequencing. Through this we would hope to find the gene, or genes (out of the some 6 billion possible) that is the mutated one that is causing the problems. It's hard to describe all this and my head is spinning right now about everything, but hopefully that makes some sense. We are very excited to be involved with this study. The down side is that they have not yet received the funding for the study so it may take a while to even get it started. Also for each individual genome sequence it takes about 6 months to sequence and analyze. There are about 25 other people in the study at this point. So...it may still be years before we have any answers.

I asked Dr. N if we could possibly help with raising money in an attempt to move things along. He said that for the study, they are needing millions of dollars. That may be a bit much to come up with and even though they would be happy to have even a little bit, it wouldn't really help move us along any faster. He did give us another option though that may be a possibility. He said that we could possibly do the genome sequencing on our own for either Bryce or Annalise while we are waiting for the results from the study. He has done this with only one other patient. It would cost us about $10,000 to get it started! He is going to look into the possibility of doing it and I am going to look into some fundraising ideas and hopefully we will be able to do this and have results much sooner. We will continue with the study so that we would have the results of everybody's DNA, but at least that would hopefully give us somewhere to start.

We are trying to stay positive, but honestly this is a little overwhelming right now. Looks like our crazy, busy life is about to get just a little bit more so!

Bryce had fun giving Annalise a ride.







After the appointment, we had breakfast in the cafeteria. I was planning on taking the kids to the Sea Life Aquarium as well, but it was just too much. Everyone was tired so we headed home to make our Gingerbread houses instead. The boys all worked on this one together and then made small ones out of graham crackers for themselves.






Then last night John and I were able to meet at the temple and attend the sealing of a couple in our ward. It was so great to be there. It was beautiful, especially as they brought the children in to be sealed to their parents. I am so thankful to know that we will be able to be with our children for all eternity. This has always been important to be, but it hits a little stronger these days!

We then went out to dinner and John returned home to relieve the respite worker and babysitter while I stopped by a friends house to pick up a few toys that he has adapted for Bryce for Christmas.

Today I feel like I have been hit by a truck! I'm sure a lot of it is from all the emotions of yesterday. I think I may be catching a cold/cough as well. Hopefully it will pass soon and everyone else will stay well.

I miss my Mom. She has gone to Wyoming to spend Christmas with a couple of my sisters and their families. She may be coming back after the new year. Thankfully she was here through December and did most of our baking, shopping, and wrapping for me while I was busy with appointments and medical stuff. If it weren't for her help, I don't know if we would be having much of a Christmas at all this year! We are looking forward to Christmas and then a nice peaceful week away in the mountains of Payson. I can't wait to get away. I am so tired of appointments! 4 days of appointments in the week of Christmas is just wrong!